MLIP-Associated Myopathy: A Case Report and Review of the Literature

Fatema Al Amrani, Khalid Al-Thihli, Gayathri Narayanappa, Almundher Al-Maawali*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء


Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype. Objective: Description of the phenotypic spectrum and features of MLIP-related myopathy. Methods: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients. Results: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities. Conclusions: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.

اللغة الأصليةEnglish
الصفحات (من إلى)293-299
عدد الصفحات7
دوريةJournal of Neuromuscular Diseases
مستوى الصوت10
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - مارس 7 2023

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